rs772624348
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs772624348(C;T) |
Make rs772624348(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 73572357 |
Gene | ALMS1 |
is a | snp |
is | mentioned by |
dbSNP | rs772624348 |
dbSNP (classic) | rs772624348 |
ClinGen | rs772624348 |
ebi | rs772624348 |
HLI | rs772624348 |
Exac | rs772624348 |
Gnomad | rs772624348 |
Varsome | rs772624348 |
LitVar | rs772624348 |
Map | rs772624348 |
PheGenI | rs772624348 |
Biobank | rs772624348 |
1000 genomes | rs772624348 |
hgdp | rs772624348 |
ensembl | rs772624348 |
geneview | rs772624348 |
scholar | rs772624348 |
rs772624348 | |
pharmgkb | rs772624348 |
gwascentral | rs772624348 |
openSNP | rs772624348 |
23andMe | rs772624348 |
SNPshot | rs772624348 |
SNPdbe | rs772624348 |
MSV3d | rs772624348 |
GWAS Ctlg | rs772624348 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772624348(G;G) rs772624348(T;T) |
Alt | rs772624348(G;G) rs772624348(T;T) |
Reference | Rs772624348(C;C) |
Significance | Pathogenic |
Disease | Alstrom syndrome |
Variation | info |
Gene | ALMS1 |
CLNDBN | Alstrom syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.73799484C>T |
CLNSRC | |
CLNACC | RCV000192879.1, |